Clinical Trials and Studies

Included on this page is clinical trial information and other test information supplied to the United Mitochondrial Disease Foundation.  You may click on the link to learn more details about the trial, its purpose, who may participate, locations, and phone numbers for more information.   THIS INFORMATION SHOULD BE USED IN CONJUNCTION WITH ADVICE FROM HEALTH CARE PROFESSIONALS.

Click on the links for Clinical Trial Information that may apply to you.

Now Enrolling for study of mitochondrial liver disease in children!

Emergency Use Protocol for EPI-743 in Acutely Ill Patients With Inherited Mitochondrial Respiratory Chain Disease Within 90 Days of End-of-Life Care

Oregon Health & Science University is recruiting women to donate eggs to a research study. The study is evaluating new techniques for correcting mitochondrial gene mutations in eggs.

Boston University School of Medicine research study to investigate treatments and therapies utilized by individuals with mitochondrial disorders.

University of Texas Houston Mitochondrial Clinic recruiting subjects with MELAS

Baylor College of Medicine and Texas Children’s Hospital are recruiting subjects with MELAS

Now Enrolling for Study of Childhood Cholestatic Liver Diseases

Coriell Institute for Medical Research Needs Blood Samples

Stanford University seeking volunteers with MELAS for a seasonal flu vaccine study.

University of Florida Phase 3 CoQ10 Trial

Bascom Palmer Eye Institute at the University of Miami Health Center is recruiting LHON patients

Baylor College of Medicine and Texas Children’s Hospital are recruiting subjects with MELAS

The University of Texas Southwestern Medical Center is recruiting patients with MELAS

Columbia University in New York City is seeking study participants for a double-blind, placebo controlled clinical trial of idebenone in MELAS

University of Texas Southwestern Medical Center seeks patients to study the effects of exercise on mitochondrial function and qaulity of life in patients with mitochondrial myopathies

Phase 3 trial of Coenzyme Q10 in mitochondrial diseases

University of Texas Height and Weight Data Collection for Mitochondrial Patients

Children's Hospital of Philadelphia study of the metabolic consequences of primary mitochondrial disease

The Childhood Liver Disease Research and Education Network (ChiLDREN) (formerly the Cholestatic Liver Disease Consortium = CLiC and the Biliary Atresia Research Consortium = BARC) is enrolling children and young adults through age 25 years in several of the largest natural history studies ever conducted in six childhood liver diseases: Biliary atresia, Alagille syndrome, alpha-one-antitrypsin deficiency, progressive familial intrahepatic cholestasis (PFIC), bile acid synthesis defects, and mitochondrial liver diseases. There are 16 sites in the U.S. and Canada enrolling for these studies.  The goals of these studies are to better understand the causes, risk factors and clinical outcomes in these childhood liver diseases. If you are interested in finding out more information about participating in one of these important studies, please phone or email one of the ChiLDREN sites (see the ChiLDREN website for contact information: http://childrennetwork.org ). Many sites now have travel funds for this year to help pay for travel and housing expenses of families from out of town. These studies are supported by the National Institutes of Health. 

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Coriell Institute for Medical Research Needs Blood Samples
The non-profit Coriell Institute for Medical Research houses the National Institute for General Medical Sciences (NIGMS) Human Genetic Cell Repository. In an effort to help researchers working to understand mitochondrial diseases, we collect blood samples and clinical data from individuals with any type of mitochondrial disease and make cell lines and DNA for scientists to use in their studies. Samples donated to the NIGMS Human Genetic Cell Repository are made available for distribution to researchers around the world along with clinical information. Scientists use these well characterized samples for a variety of purposes, including: the discovery of disease genes and their function, further study of known genes and gene expression, development of new genetic testing and development of therapeutics.  Interested donors may contact Tara Schmidlen, MS CGC at tschmidl@coriell.org or 856-757-4822 to receive a blood collection kit. Donation requires completion of patient/parental informed consent, submission form and a clinical information summary.  Coriell covers the cost of shipment both ways.   FAQ's about the NIGSM HGCR Repository.

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The Stanford-LPCH Vaccine Program is seeking healthy kids and adults to participate in an influenza (commonly known as "the flu") vaccine research study to better understand effects of immunizations for people with mitochondrial disorder.  We will enroll 15 healthy male and female adult participants (18-50 years old) along with 15 otherwise healthy children and adults (13-50 years old) with a metabolic disorder called MELAS syndrome.  The flu vaccine used in this study is licensed by the FDA and not experimental.  This is the same seasonal flu vaccine used for the public during the 2010-2011 flu season.  The research will be conducted at Stanford University by Dr. Gregory Enns, Associate Professor of Pediatrics and the Director of the Biochemical Genetics Program and Dr. Cornelia L. Dekker, Professor of Pediatrics at Stanford.

The purpose of this study is to compare specific metabolic responses and immune biomarkers before and after the administration of the seasonal flu vaccine. Preliminary studies show those with mitochondrial disorders may respond differently as compared to healthy participants. The information collected by this study will help us better understand the safety and efficacy of influenza vaccination in volunteers with mitochondrial disease.
To download additional details, click here.

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University of Florida Phase 3 Tria lon CoQ10
The University of Florida is continuing to recruit patients for a clinical trial to investigate the safety and effectiveness of Coenzyme Q10 (CoQ10) as a treatment for children with specific mitochondrial diseases.  CoQ10 is a mitochondrial cofactor and antioxidant in the process that cells use to convert food and oxygen into energy.  To be considered for the trial, patients must be 12 months to 17 years of age and have a biochemical or molecular diagnosis of a deficiency of complex I, III or IV of the respiratory chain.    For additional information contact Courtney Yates, RN, at Courtney.Yates@medicine.ufl.edu or at  352-273-9016. 


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Bascom Palmer Eye Insitute at the University of Miami Health Center is recruiting LHON patients. The major aim of this study is to identify and clinical characterize a group of patients and carriers with LHON due to G11778A mutation in preparation for a future gene therapy study. The intent is to eventually choose subjects for the future phase 1 or phase 2 of the gene therapy study from the participants in this preparatory phase of the study.  For details, click here.

Baylor College of Medicine and Texas Children’s Hospital are recruiting subjects with MELAS (mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes) syndrome for a clinical study. The purpose of this study is to measure nitric oxide in subjects with MELAS syndrome and to see if giving arginine or citrulline will increase the formation of nitric oxide. Nitric oxide is thought to be helpful in improving and preventing strokes. Therefore, if arginine and/or citrulline are shown to increase the formation of nitric oxide, they could be used to prevent and improve the strokes in patients with MELAS syndrome. Adults or children affected with MELAS syndrome and carrying the A3243G mutation can participate. Adults without MELAS disease will be recruited to participate as control subjects.  Subjects with MELAS will be admitted twice to the General Clinical Research Center (GCRC) at Texas Children's Hospital and nitric oxide production will be measured by stable isotopes infusion which is a safe procedure. The principal investigator is Dr. Fernando Scaglia. Subjects interested in participation or getting more information can contact the co-investigator Dr. Ayman El-Hattab at email: elhattab@bcm.edu, phone: 832-822-4289 or pager: 832-824-7243 (5523).

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The University of Texas Southwestern Medical Center is recruiting patients for this research study. Adult or pediatric patients afflicted by the mitochondrial disease MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) associated with mitochondrial DNA mutation A3243G will be subject to physical examination, bloodwork and a type of MRI named 7T MRS (magnetic resonance spectroscopy), peformed on the leg muscle, to understand how muscle MRS results correlate with disease severity and mutation abundance in blood. Patients with any type of metal implants in the body or unable to receive an MRI are not eligible to participate. There is no treatment or other intervention associated with this study at this time. Patient participation will last less than 3 hours for each visit, for a maximum of three visits. Patients interested in participating or in obtaining more information should contact the principal investigator Juan M. Pascual, MD, PhD at Juan.Pascual@UTSouthwestern.edu or call us at 214-456-2768

Columbia University in New York City is seeking study participants for a double-blind, placebo controlled clinical trial of idebenone in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes).  The Phase IIa study will compare two different doses of an experimental medication, idebenone, administered over a one month period to determine the efficacy of the drug.  People with MELAS and the 3243 mutation, aged 8-65 years, may be eligible.  The main goal of the clinical trial is to determine if idebenone has an effect on brain lactate as measured by magnetic resonance spectroscopy (MRS). MRS is done in an MRI scanner, and is safe and typically well tolerated.  An additional goal is to study the safety and tolerability of idebenone in people with MELAS.  If you or a family member would like more information regarding this study please see our website or contact the Research Coordinator, Kris Engelstad, at the number listed below.

Website: http://giblinlab.org/studies.html
Contact: Kris Engelstad, Research Coordinator
(212) 305-6834

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EFFECTS OF EXERCISE ON MITOCHONDRIAL FUNCTION AND QUALITY OF LIFE IN PATIENTS WITH MITCHONDRIAL MYOPATHIES DUE TO MITOCHONDRIAL DNA MUTATIONS.
University of Texas Southwestern Medical Center is recruiting patients for this NIH-supported study. We are attempting to define the effects of regular exercise training and the consequences of a lack of regular exercise on mitochondrial function over 2 years of observation.  We are recruiting patients who have defined mitochondrial DNA defects to undergo detailed muscle and heart evaluation and then will undergo supervised exercise training with repeat detailed evaluation at three additional time points over the 2 years of study.   Patients interested in participating or in obtaining more information should contact the research coordinator, Marta Newby, R.N.
To see the website for this clinical trial, click here.
Phone: 214-345-4655
email : MartaNewby@texashealth.org

PHASE 3 TRIAL OF COENZYME Q10 IN MITOCHONDRIAL DISEASES
This study is sponsored by the FDA Orphan Products Division, Tishcon Corp., and General Clinical Research Centers funded by the National Institutes of Health. For more information this trial, click here.

UNIVERSITY OF TEXAS HEIGHT AND WEIGHT DATA COLLECTION FOR MITOCHONDRIAL PATIENTS
If you have a mitochondrial disorder or are the parent of someone with a mitochondrial disorder, Dr. Mary Kay Koenig at the University of Texas Houston Mitochondrial Clinic is seeking information on heights and weights of persons with mitochondrial disorders.  For more information on this study, click here.

METABOLIC CONSEQUENCES OF PRIMARY MITOCHONDRIAL DISEASE
This is an NIH-sponsored study at the Children's Hospital of Philadelphia designed to primarily evaluate previously collected muscle, skin and blood from individuals with definite mitochondrial disease.  For more information on this study, click here.

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